Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=122
{ "count": 35555, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=123", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=121", "results": [ { "gene_data": { "alias": [ "Prdc", "FLJ21195", "CKTSF1B2", "DAND3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17655", "gene_name": "gremlin 2, DAN family BMP antagonist", "omim_gene": [ "608832" ], "alias_name": [ "protein related to DAN and cerberus" ], "gene_symbol": "GREM2", "hgnc_symbol": "GREM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:240652873-240775449", "ensembl_id": "ENSG00000180875" } }, "GRch38": { "90": { "location": "1:240489573-240612149", "ensembl_id": "ENSG00000180875" } } }, "hgnc_date_symbol_changed": "2004-07-30" }, "entity_type": "gene", "entity_name": "GREM2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26416033", "28992378", "24686385" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "Tooth agenesis, selective, 9 MONDO:0014999" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal 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"AXIN2", "hgnc_symbol": "AXIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:63524681-63557765", "ensembl_id": "ENSG00000168646" } }, "GRch38": { "90": { "location": "17:65528563-65561647", "ensembl_id": "ENSG00000168646" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "AXIN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15042511", "21626677", "21416598" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Oligodontia-colorectal cancer syndrome, MIM# 608615" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EDA1", "XLHED", "HED", "XHED", "ED1-A1", "ED1-A2", "EDA-A1", "EDA-A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3157", "gene_name": "ectodysplasin A", "omim_gene": [ "300451" ], "alias_name": null, "gene_symbol": "EDA", "hgnc_symbol": "EDA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:68835911-69259319", 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"2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ED5", "EDA3", "Edar", "ED1R", "EDA1R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2895", "gene_name": "ectodysplasin A receptor", "omim_gene": [ "604095" ], "alias_name": null, "gene_symbol": "EDAR", "hgnc_symbol": "EDAR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:109510927-109605828", "ensembl_id": "ENSG00000135960" } }, "GRch38": { "90": { "location": "2:108894471-108989372", "ensembl_id": "ENSG00000135960" } } }, "hgnc_date_symbol_changed": "1999-08-09" }, "entity_type": "gene", "entity_name": "EDAR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10431241", "20301291", "16435307", "20979233", "23401279", "18384562" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884", "autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14341", "gene_name": "EDAR associated death domain", "omim_gene": [ "606603" ], "alias_name": null, "gene_symbol": "EDARADD", "hgnc_symbol": "EDARADD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:236511562-236648214", "ensembl_id": "ENSG00000186197" } }, "GRch38": { "90": { "location": "1:236348257-236484914", "ensembl_id": "ENSG00000186197" } } }, "hgnc_date_symbol_changed": "2002-02-08" }, "entity_type": "gene", "entity_name": "EDARADD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301291", "34219261", "11780064", "26991760", "34573371", "20979233", "17354266", "26440664" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884", "autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9" ], "biotype": null, "hgnc_id": "HGNC:5961", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma", "omim_gene": [ "300248" ], "alias_name": null, "gene_symbol": "IKBKG", "hgnc_symbol": "IKBKG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153769414-153796782", "ensembl_id": "ENSG00000073009" } }, "GRch38": { "90": { "location": "X:154541199-154565046", "ensembl_id": "ENSG00000269335" } } }, "hgnc_date_symbol_changed": "1998-09-30" }, "entity_type": "gene", "entity_name": "IKBKG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ectodermal dysplasia and immunodeficiency 1, MIM# 300291", "Immunodeficiency 33 , MIM#300636", "Incontinentia pigmenti, MIM# 308300" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ADCAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6698", "gene_name": "LDL receptor related protein 6", "omim_gene": [ "603507" ], "alias_name": null, "gene_symbol": "LRP6", "hgnc_symbol": "LRP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:12268959-12419946", "ensembl_id": "ENSG00000070018" } }, "GRch38": { "90": { "location": "12:12116025-12267012", "ensembl_id": "ENSG00000070018" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "LRP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HYD1", "OFC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7391", "gene_name": "msh homeobox 1", "omim_gene": [ "142983" ], "alias_name": null, "gene_symbol": "MSX1", "hgnc_symbol": "MSX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:4861393-4865663", "ensembl_id": "ENSG00000163132" } }, "GRch38": { "90": { "location": "4:4859666-4863936", "ensembl_id": "ENSG00000163132" } } }, "hgnc_date_symbol_changed": "1993-05-26" }, "entity_type": "gene", "entity_name": "MSX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert 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{ "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8623", "gene_name": "paired box 9", "omim_gene": [ "167416" ], "alias_name": null, "gene_symbol": "PAX9", "hgnc_symbol": "PAX9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:37126773-37148920", "ensembl_id": "ENSG00000198807" } }, "GRch38": { "90": { "location": "14:36657568-36679715", "ensembl_id": "ENSG00000198807" } } }, "hgnc_date_symbol_changed": "1993-06-07" }, "entity_type": "gene", "entity_name": "PAX9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10615120", "16479262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Tooth agenesis, selective, 3 - MIM#604625" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital 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It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CYP5", "CYP5A1", "THAS", "TXS", "TXAS", "TS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11609", "gene_name": "thromboxane A synthase 1", "omim_gene": [ "274180" ], "alias_name": [ "cytochrome P450, family 5, subfamily A, polypeptide 1" ], "gene_symbol": "TBXAS1", "hgnc_symbol": "TBXAS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:139476850-139720125", "ensembl_id": "ENSG00000059377" } }, "GRch38": { "90": { "location": "7:139777051-140020325", "ensembl_id": "ENSG00000059377" } } }, "hgnc_date_symbol_changed": "1992-10-07" }, "entity_type": "gene", "entity_name": "TBXAS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18264100", "27156553", "28868793", "33244729", "33595912", "36786374", "39220787", "39277773" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ghosal hematodiaphyseal syndrome, MIM# 231095" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 150, "hash_id": null, "name": "Osteopetrosis", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null } ] }